Winichagoon P, Fucharoen S, Kanokpongsakdi S, Fukumaki Y
Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Clin Genet. 1995 Jun;47(6):318-20. doi: 10.1111/j.1399-0004.1995.tb03972.x.
A simple non-radioactive method based on the polymerase chain reaction was used to detect the Southeast Asian type of alpha-thalassemia 1 (--). Three oligonucleotide primers, one of which was adjacent to the breakpoint of the alpha-thalassemia-1 allele, were used to amplify the 570 and 194 bp DNA fragments. The 570 bp product was specific to the alpha-thalassemia-1 determinant and the 194 bp fragment was amplified from either the alpha-thalassemia-2 (-alpha) or normal alpha-globin (alpha alpha) determinants. In Hb Bart's hydrops fetalis (--/--), only the 570 bp fragment was obtained, whereas the 194 bp fragment was amplified in normal individual (alpha alpha/alpha alpha) and alpha-thalassemia-2 trait (-alpha/alpha alpha). Both 570 and 194 bp fragments were detected in alpha-thalassemia-1 trait (--/alpha alpha) and Hb H patients (--/-alpha). This procedure is useful for the rapid screening of alpha-thalassemia-1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis in populations with a high frequency of the Southeast Asian Type of alpha-thalassemia-1.
采用一种基于聚合酶链反应的简单非放射性方法来检测东南亚型α地中海贫血1（--）。使用了三种寡核苷酸引物，其中一种与α地中海贫血-1等位基因的断点相邻，用于扩增570和194 bp的DNA片段。570 bp的产物对α地中海贫血-1决定簇具有特异性，194 bp的片段是从α地中海贫血-2（-α）或正常α珠蛋白（αα）决定簇中扩增得到的。在巴氏水肿胎儿血红蛋白病（--/--）中，仅获得570 bp的片段，而在正常个体（αα/αα）和α地中海贫血-2特征（-α/αα）中扩增出194 bp的片段。在α地中海贫血-1特征（--/αα）和血红蛋白H病患者（--/-α）中同时检测到570和194 bp的片段。该方法对于东南亚型α地中海贫血-1高发人群中α地中海贫血-1特征的快速筛查和巴氏水肿胎儿血红蛋白病产前诊断很有用。
